dspa desmoplakin a [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: dspaprovided by ZNC
Official Full Name: desmoplakin aprovided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-2743
See related: Ensembl:ENSDARG00000022309 AllianceGenome:ZFIN:ZDB-GENE-030131-2743
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: sb:cb570; im:6911953; wu:fc17a08; wu:fk73d01
Summary: Predicted to enable structural molecule activity. Predicted to be involved in several processes, including intermediate filament cytoskeleton organization; skin development; and wound healing. Predicted to be located in cell junction and cytoskeleton. Predicted to be active in cytoplasm; intercalated disc; and plasma membrane. Predicted to colocalize with intermediate filament. Is expressed in several structures, including EVL; digestive system; ectoderm; epidermis; and pectoral fin. Human ortholog(s) of this gene implicated in Carvajal syndrome; arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 8; and dilated cardiomyopathy. Orthologous to human DSP (desmoplakin). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: chromosome: 2

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	2	NC_007113.7 (2110375..2162744)
105	previous assembly	GRCz10 (GCF_000002035.5)	2	NC_007113.6 (1767572..1819936)

Chromosome 2 - NC_007113.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of cardiac Wnt/beta-catenin signalling occurs in desmoplakin-deficient AC8 zebrafish.
Title: Loss of cardiac Wnt/β-catenin signalling in desmoplakin-deficient AC8 zebrafish models is rescuable by genetic and pharmacological intervention.

Submit: New GeneRIF Correction

General gene information

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Markers

fk73d01.x1 (e-PCR)
- UniSTS:201483

AI657752 (e-PCR)
- UniSTS:206096

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables structural molecule activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heart contraction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intermediate filament cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intermediate filament cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in skin development	IBA Inferred from Biological aspect of Ancestor more info
involved_in wound healing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in desmosome	IEA Inferred from Electronic Annotation more info
is_active_in intercalated disc	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: desmoplakin-A; desmoplakin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001423755.1 → NP_001410684.1 desmoplakin-A isoform 1

Status: VALIDATED

Source sequence(s)

GDQH01000026, GDQQ01000372, GFIL01009009, GFIL01009010

UniProtKB/TrEMBL

A0A8M1QL44
NM_001423756.1 → NP_001410685.1 desmoplakin-A isoform 2

Status: VALIDATED

Source sequence(s)

GDQQ01000372, GFIL01009009, GFIL01009010

UniProtKB/Swiss-Prot

A0A8M2BID5, F8W4Q1, Q5CZW1

RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

NC_007113.7 Reference GRCz11 Primary Assembly

Range

2110375..2162744

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_001919866.7 → XP_001919901.3 desmoplakin isoform X1

Conserved Domains (8) summary

smart00250
Location:1968 → 2004

PLEC; Plectin repeat

cd00176
Location:200 → 381

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00681
Location:1931 → 1971

Plectin; Plectin repeat

pfam03528
Location:1042 → 1345

Rabaptin; Rabaptin

pfam09311
Location:1199 → 1503

Rab5-bind; Rabaptin-like protein

pfam10174
Location:733 → 1213

Cast; RIM-binding protein of the cytomatrix active zone

pfam15678
Location:1368 → 1555

SPICE; Centriole duplication and mitotic chromosome congression

cl02488
Location:298 → 471

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_005171104.4 → XP_005171161.1 desmoplakin isoform X2

UniProtKB/TrEMBL

F8W4Q1

Related

ENSDARP00000123859.2, ENSDART00000148460.4

Conserved Domains (7) summary

smart00250
Location:1525 → 1561

PLEC; Plectin repeat

COG1196
Location:702 → 1380

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00176
Location:200 → 381

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00681
Location:1488 → 1528

Plectin; Plectin repeat

pfam02463
Location:1138 → 1764

SMC_N; RecF/RecN/SMC N terminal domain

cl02488
Location:826 → 995

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

cl24005
Location:1288 → 1387

DUF2570; Protein of unknown function (DUF2570)